List of variants studied for congenital contractural arachnodactyly by Genome Diagnostics Laboratory, University Medical Center Utrecht

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		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.5675-9C>T	rs27713	0.68788
NM_001999.4(FBN2):c.111G>A (p.Pro37=)	rs55715053	0.14249
NM_001999.4(FBN2):c.183C>G (p.Pro61=)	rs73348287	0.10581
NM_001999.4(FBN2):c.6292+12C>A	rs10042349	0.04495
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)	rs62390671	0.03303
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)	rs28763946	0.01862
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)	rs56168072	0.00832
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)	rs28763954	0.00654
NM_001999.4(FBN2):c.738G>A (p.Ala246=)	rs150087436	0.00200
NM_001999.4(FBN2):c.5353+19C>T	rs183524866	0.00179
NM_001999.4(FBN2):c.953-8T>G	rs201818403	0.00152
NM_001999.4(FBN2):c.2555-7A>G	rs28763949	0.00137
NM_001999.4(FBN2):c.8364+7A>T	rs185052980	0.00134
NM_001999.4(FBN2):c.5674+7A>G	rs367877964	0.00049
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)	rs147102633	0.00046
NM_001999.4(FBN2):c.7012+7G>A	rs199735209	0.00042
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)	rs17608368

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